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A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes
Globally, autosomal recessive IFNAR1 deficiency is a rare inborn error of immunity underlying susceptibility to live attenuated vaccine and wild-type viruses. We report seven children from five unrelated kindreds of western Polynesian ancestry who suffered from severe viral diseases. All the patient...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Rockefeller University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9026234/ https://www.ncbi.nlm.nih.gov/pubmed/35442418 http://dx.doi.org/10.1084/jem.20220028 |
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author | Bastard, Paul Hsiao, Kuang-Chih Zhang, Qian Choin, Jeremy Best, Emma Chen, Jie Gervais, Adrian Bizien, Lucy Materna, Marie Harmant, Christine Roux, Maguelonne Hawley, Nicola L. Weeks, Daniel E. McGarvey, Stephen T. Sandoval, Karla Barberena-Jonas, Carmina Quinto-Cortés, Consuelo D. Hagelberg, Erika Mentzer, Alexander J. Robson, Kathryn Coulibaly, Boubacar Seeleuthner, Yoann Bigio, Benedetta Li, Zhi Uzé, Gilles Pellegrini, Sandra Lorenzo, Lazaro Sbihi, Zineb Latour, Sylvain Besnard, Marianne Adam de Beaumais, Tiphaine Jacqz Aigrain, Evelyne Béziat, Vivien Deka, Ranjan Esera Tulifau, Litara Viali, Satupa‘itea Reupena, Muagututi‘a Sefuiva Naseri, Take McNaughton, Peter Sarkozy, Vanessa Peake, Jane Blincoe, Annaliesse Primhak, Sarah Stables, Simon Gibson, Kate Woon, See-Tarn Drake, Kylie Marie Hill, Adrian V.S. Chan, Cheng-Yee King, Richard Ameratunga, Rohan Teiti, Iotefa Aubry, Maite Cao-Lormeau, Van-Mai Tangye, Stuart G. Zhang, Shen-Ying Jouanguy, Emmanuelle Gray, Paul Abel, Laurent Moreno-Estrada, Andrés Minster, Ryan L. Quintana-Murci, Lluis Wood, Andrew C. Casanova, Jean-Laurent |
author_facet | Bastard, Paul Hsiao, Kuang-Chih Zhang, Qian Choin, Jeremy Best, Emma Chen, Jie Gervais, Adrian Bizien, Lucy Materna, Marie Harmant, Christine Roux, Maguelonne Hawley, Nicola L. Weeks, Daniel E. McGarvey, Stephen T. Sandoval, Karla Barberena-Jonas, Carmina Quinto-Cortés, Consuelo D. Hagelberg, Erika Mentzer, Alexander J. Robson, Kathryn Coulibaly, Boubacar Seeleuthner, Yoann Bigio, Benedetta Li, Zhi Uzé, Gilles Pellegrini, Sandra Lorenzo, Lazaro Sbihi, Zineb Latour, Sylvain Besnard, Marianne Adam de Beaumais, Tiphaine Jacqz Aigrain, Evelyne Béziat, Vivien Deka, Ranjan Esera Tulifau, Litara Viali, Satupa‘itea Reupena, Muagututi‘a Sefuiva Naseri, Take McNaughton, Peter Sarkozy, Vanessa Peake, Jane Blincoe, Annaliesse Primhak, Sarah Stables, Simon Gibson, Kate Woon, See-Tarn Drake, Kylie Marie Hill, Adrian V.S. Chan, Cheng-Yee King, Richard Ameratunga, Rohan Teiti, Iotefa Aubry, Maite Cao-Lormeau, Van-Mai Tangye, Stuart G. Zhang, Shen-Ying Jouanguy, Emmanuelle Gray, Paul Abel, Laurent Moreno-Estrada, Andrés Minster, Ryan L. Quintana-Murci, Lluis Wood, Andrew C. Casanova, Jean-Laurent |
author_sort | Bastard, Paul |
collection | PubMed |
description | Globally, autosomal recessive IFNAR1 deficiency is a rare inborn error of immunity underlying susceptibility to live attenuated vaccine and wild-type viruses. We report seven children from five unrelated kindreds of western Polynesian ancestry who suffered from severe viral diseases. All the patients are homozygous for the same nonsense IFNAR1 variant (p.Glu386*). This allele encodes a truncated protein that is absent from the cell surface and is loss-of-function. The fibroblasts of the patients do not respond to type I IFNs (IFN-α2, IFN-ω, or IFN-β). Remarkably, this IFNAR1 variant has a minor allele frequency >1% in Samoa and is also observed in the Cook, Society, Marquesas, and Austral islands, as well as Fiji, whereas it is extremely rare or absent in the other populations tested, including those of the Pacific region. Inherited IFNAR1 deficiency should be considered in individuals of Polynesian ancestry with severe viral illnesses. |
format | Online Article Text |
id | pubmed-9026234 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Rockefeller University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-90262342022-05-06 A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes Bastard, Paul Hsiao, Kuang-Chih Zhang, Qian Choin, Jeremy Best, Emma Chen, Jie Gervais, Adrian Bizien, Lucy Materna, Marie Harmant, Christine Roux, Maguelonne Hawley, Nicola L. Weeks, Daniel E. McGarvey, Stephen T. Sandoval, Karla Barberena-Jonas, Carmina Quinto-Cortés, Consuelo D. Hagelberg, Erika Mentzer, Alexander J. Robson, Kathryn Coulibaly, Boubacar Seeleuthner, Yoann Bigio, Benedetta Li, Zhi Uzé, Gilles Pellegrini, Sandra Lorenzo, Lazaro Sbihi, Zineb Latour, Sylvain Besnard, Marianne Adam de Beaumais, Tiphaine Jacqz Aigrain, Evelyne Béziat, Vivien Deka, Ranjan Esera Tulifau, Litara Viali, Satupa‘itea Reupena, Muagututi‘a Sefuiva Naseri, Take McNaughton, Peter Sarkozy, Vanessa Peake, Jane Blincoe, Annaliesse Primhak, Sarah Stables, Simon Gibson, Kate Woon, See-Tarn Drake, Kylie Marie Hill, Adrian V.S. Chan, Cheng-Yee King, Richard Ameratunga, Rohan Teiti, Iotefa Aubry, Maite Cao-Lormeau, Van-Mai Tangye, Stuart G. Zhang, Shen-Ying Jouanguy, Emmanuelle Gray, Paul Abel, Laurent Moreno-Estrada, Andrés Minster, Ryan L. Quintana-Murci, Lluis Wood, Andrew C. Casanova, Jean-Laurent J Exp Med Article Globally, autosomal recessive IFNAR1 deficiency is a rare inborn error of immunity underlying susceptibility to live attenuated vaccine and wild-type viruses. We report seven children from five unrelated kindreds of western Polynesian ancestry who suffered from severe viral diseases. All the patients are homozygous for the same nonsense IFNAR1 variant (p.Glu386*). This allele encodes a truncated protein that is absent from the cell surface and is loss-of-function. The fibroblasts of the patients do not respond to type I IFNs (IFN-α2, IFN-ω, or IFN-β). Remarkably, this IFNAR1 variant has a minor allele frequency >1% in Samoa and is also observed in the Cook, Society, Marquesas, and Austral islands, as well as Fiji, whereas it is extremely rare or absent in the other populations tested, including those of the Pacific region. Inherited IFNAR1 deficiency should be considered in individuals of Polynesian ancestry with severe viral illnesses. Rockefeller University Press 2022-04-20 /pmc/articles/PMC9026234/ /pubmed/35442418 http://dx.doi.org/10.1084/jem.20220028 Text en © 2022 Bastard et al. https://creativecommons.org/licenses/by/4.0/This article is available under a Creative Commons License (Attribution 4.0 International, as described at https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Bastard, Paul Hsiao, Kuang-Chih Zhang, Qian Choin, Jeremy Best, Emma Chen, Jie Gervais, Adrian Bizien, Lucy Materna, Marie Harmant, Christine Roux, Maguelonne Hawley, Nicola L. Weeks, Daniel E. McGarvey, Stephen T. Sandoval, Karla Barberena-Jonas, Carmina Quinto-Cortés, Consuelo D. Hagelberg, Erika Mentzer, Alexander J. Robson, Kathryn Coulibaly, Boubacar Seeleuthner, Yoann Bigio, Benedetta Li, Zhi Uzé, Gilles Pellegrini, Sandra Lorenzo, Lazaro Sbihi, Zineb Latour, Sylvain Besnard, Marianne Adam de Beaumais, Tiphaine Jacqz Aigrain, Evelyne Béziat, Vivien Deka, Ranjan Esera Tulifau, Litara Viali, Satupa‘itea Reupena, Muagututi‘a Sefuiva Naseri, Take McNaughton, Peter Sarkozy, Vanessa Peake, Jane Blincoe, Annaliesse Primhak, Sarah Stables, Simon Gibson, Kate Woon, See-Tarn Drake, Kylie Marie Hill, Adrian V.S. Chan, Cheng-Yee King, Richard Ameratunga, Rohan Teiti, Iotefa Aubry, Maite Cao-Lormeau, Van-Mai Tangye, Stuart G. Zhang, Shen-Ying Jouanguy, Emmanuelle Gray, Paul Abel, Laurent Moreno-Estrada, Andrés Minster, Ryan L. Quintana-Murci, Lluis Wood, Andrew C. Casanova, Jean-Laurent A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes |
title | A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes |
title_full | A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes |
title_fullStr | A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes |
title_full_unstemmed | A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes |
title_short | A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes |
title_sort | loss-of-function ifnar1 allele in polynesia underlies severe viral diseases in homozygotes |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9026234/ https://www.ncbi.nlm.nih.gov/pubmed/35442418 http://dx.doi.org/10.1084/jem.20220028 |
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